Mutagenetix > Incidental Mutation

Incidental Mutation 'R4405:Skic3'

327634

Institutional Source

Beutler Lab

Gene Symbol

Skic3

Ensembl Gene

ENSMUSG00000033991

Gene Name

SKI3 subunit of superkiller complex

Synonyms

Ttc37

MMRRC Submission

041134-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

R4405 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76246853-76338435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76303784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1234 (Y1234F)

Ref Sequence

ENSEMBL: ENSMUSP00000153521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091466] [ENSMUST00000224386]

AlphaFold

F8VPK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000091466
AA Change: Y1234F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991
AA Change: Y1234F

Domain	Start	End	E-Value	Type
TPR	6	39	2.92e1	SMART
TPR	40	73	1.1e-1	SMART
TPR	272	305	9.45e0	SMART
TPR	306	339	8.9e-2	SMART
SEL1	420	451	1.45e2	SMART
TPR	420	453	2.55e-2	SMART
SEL1	454	490	1.15e1	SMART
TPR	454	492	2.84e1	SMART
TPR	493	527	1.92e1	SMART
TPR	564	597	7.34e-3	SMART
TPR	598	631	1.81e-2	SMART
TPR	632	665	2.43e1	SMART
low complexity region	728	739	N/A	INTRINSIC
SEL1	861	892	3.58e1	SMART
TPR	861	894	2.14e-4	SMART
TPR	980	1013	1.56e1	SMART
Blast:TPR	1051	1084	7e-11	BLAST
Blast:TPR	1088	1121	7e-10	BLAST
TPR	1399	1432	4.31e0	SMART
low complexity region	1438	1450	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224289

Predicted Effect

probably damaging
Transcript: ENSMUST00000224386
AA Change: Y1234F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	C	T	8: 95,763,536 (GRCm39)	A279V	probably benign	Het
Aggf1	G	A	13: 95,508,102 (GRCm39)	P88L	probably benign	Het
Asb18	T	C	1: 89,896,411 (GRCm39)	T210A	probably benign	Het
Cd8b1	C	T	6: 71,303,006 (GRCm39)	S27L	possibly damaging	Het
Cfap43	C	T	19: 47,728,236 (GRCm39)	S1507N	possibly damaging	Het
Col12a1	A	T	9: 79,547,247 (GRCm39)		probably null	Het
Col19a1	G	A	1: 24,573,190 (GRCm39)	T194M	unknown	Het
Cpb1	T	A	3: 20,317,733 (GRCm39)	T237S	probably benign	Het
Cubn	G	A	2: 13,470,841 (GRCm39)	T517M	probably damaging	Het
Dnah6	T	C	6: 73,106,274 (GRCm39)	N1769S	probably benign	Het
Dnm1	A	G	2: 32,225,984 (GRCm39)	I365T	probably damaging	Het
E2f5	T	A	3: 14,668,823 (GRCm39)	D238E	probably benign	Het
Etv6	A	G	6: 134,210,497 (GRCm39)	E115G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Gapvd1	C	T	2: 34,618,747 (GRCm39)	V209I	probably damaging	Het
Gbp8	G	A	5: 105,198,928 (GRCm39)		probably benign	Het
Gprc6a	T	C	10: 51,504,639 (GRCm39)	I68M	probably benign	Het
Grb14	T	C	2: 64,783,966 (GRCm39)	N54D	probably damaging	Het
Gucy2g	A	T	19: 55,226,269 (GRCm39)	F216I	probably benign	Het
Herc2	T	A	7: 55,820,225 (GRCm39)	L2849Q	probably damaging	Het
Hsd17b4	G	T	18: 50,261,381 (GRCm39)		probably benign	Het
Igkv9-129	T	A	6: 67,816,784 (GRCm39)	M3K	probably damaging	Het
Iqcd	A	T	5: 120,740,485 (GRCm39)	E272V	probably damaging	Het
Itih2	A	T	2: 10,111,548 (GRCm39)	Y463*	probably null	Het
Kcna10	G	A	3: 107,102,781 (GRCm39)	E471K	possibly damaging	Het
Klf3	A	T	5: 64,986,347 (GRCm39)	E294V	possibly damaging	Het
Lancl1	A	T	1: 67,060,015 (GRCm39)		probably null	Het
Ldaf1	T	G	7: 119,714,714 (GRCm39)	F68V	probably damaging	Het
Lrig3	T	C	10: 125,846,877 (GRCm39)	F882L	probably benign	Het
Man2c1	A	G	9: 57,046,367 (GRCm39)	N474S	probably damaging	Het
Map4k3	A	G	17: 80,922,444 (GRCm39)		probably null	Het
Mast1	C	A	8: 85,647,520 (GRCm39)	W572C	probably damaging	Het
Mbd4	T	A	6: 115,826,076 (GRCm39)	Q305L	possibly damaging	Het
Mbl2	T	A	19: 30,216,916 (GRCm39)	S243T	probably benign	Het
Mcph1	C	T	8: 18,682,557 (GRCm39)	P565S	probably benign	Het
Mfsd1	G	C	3: 67,507,943 (GRCm39)	V435L	probably benign	Het
Mycbp2	C	T	14: 103,360,881 (GRCm39)	G1183D	probably damaging	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Noa1	A	T	5: 77,454,219 (GRCm39)	S474T	probably benign	Het
Nrde2	A	G	12: 100,096,843 (GRCm39)	Y986H	probably benign	Het
Oca2	G	T	7: 56,064,182 (GRCm39)	V726F	possibly damaging	Het
Or2ag13	T	A	7: 106,472,580 (GRCm39)	S291C	probably damaging	Het
Or7a41	A	T	10: 78,871,244 (GRCm39)	M205L	probably benign	Het
Pip5k1a	A	G	3: 94,975,370 (GRCm39)		probably null	Het
Plekhn1	A	T	4: 156,309,730 (GRCm39)		probably null	Het
Sec61a2	T	C	2: 5,887,670 (GRCm39)	D104G	probably benign	Het
Slc25a36	T	C	9: 96,967,171 (GRCm39)	T131A	probably benign	Het
Slc5a11	A	T	7: 122,857,700 (GRCm39)	D263V	probably damaging	Het
Sorbs1	T	C	19: 40,384,189 (GRCm39)	I35V	probably benign	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Tbc1d1	T	C	5: 64,331,013 (GRCm39)	V64A	possibly damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn1r20	A	G	6: 57,409,042 (GRCm39)	M123V	probably benign	Het
Zwint	T	C	10: 72,492,095 (GRCm39)	L59P	probably damaging	Het

Other mutations in Skic3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Skic3	APN	13	76,291,397 (GRCm39)	critical splice donor site	probably null
IGL00650:Skic3	APN	13	76,275,626 (GRCm39)	missense	possibly damaging	0.89
IGL00838:Skic3	APN	13	76,282,910 (GRCm39)	missense	probably damaging	0.99
IGL00958:Skic3	APN	13	76,270,864 (GRCm39)	missense	probably damaging	0.98
IGL01011:Skic3	APN	13	76,270,784 (GRCm39)	missense	probably damaging	0.97
IGL01062:Skic3	APN	13	76,303,581 (GRCm39)	nonsense	probably null
IGL01319:Skic3	APN	13	76,277,498 (GRCm39)	missense	probably benign	0.29
IGL01697:Skic3	APN	13	76,276,852 (GRCm39)	missense	probably benign	0.01
IGL02061:Skic3	APN	13	76,277,660 (GRCm39)	critical splice donor site	probably null
IGL02184:Skic3	APN	13	76,259,810 (GRCm39)	missense	probably damaging	1.00
IGL02309:Skic3	APN	13	76,275,166 (GRCm39)	missense	possibly damaging	0.90
IGL03230:Skic3	APN	13	76,303,766 (GRCm39)	splice site	probably benign
IGL03354:Skic3	APN	13	76,330,941 (GRCm39)	missense	possibly damaging	0.71
caviar	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
gourmet	UTSW	13	76,298,638 (GRCm39)	missense	probably damaging	1.00
tartare	UTSW	13	76,333,298 (GRCm39)	missense	probably damaging	0.96
R0501:Skic3	UTSW	13	76,295,925 (GRCm39)	missense	probably benign
R0628:Skic3	UTSW	13	76,298,848 (GRCm39)	missense	possibly damaging	0.89
R0711:Skic3	UTSW	13	76,331,010 (GRCm39)	missense	probably damaging	1.00
R0928:Skic3	UTSW	13	76,261,711 (GRCm39)	missense	probably damaging	1.00
R1402:Skic3	UTSW	13	76,279,533 (GRCm39)	missense	probably damaging	1.00
R1402:Skic3	UTSW	13	76,279,533 (GRCm39)	missense	probably damaging	1.00
R1524:Skic3	UTSW	13	76,286,491 (GRCm39)	missense	probably benign	0.01
R1628:Skic3	UTSW	13	76,259,910 (GRCm39)	missense	possibly damaging	0.75
R1702:Skic3	UTSW	13	76,270,862 (GRCm39)	missense	possibly damaging	0.66
R1750:Skic3	UTSW	13	76,288,720 (GRCm39)	missense	possibly damaging	0.89
R1822:Skic3	UTSW	13	76,278,407 (GRCm39)	missense	probably benign	0.35
R1885:Skic3	UTSW	13	76,278,354 (GRCm39)	missense	probably benign	0.11
R1885:Skic3	UTSW	13	76,261,166 (GRCm39)	missense	probably benign	0.00
R1923:Skic3	UTSW	13	76,282,889 (GRCm39)	missense	probably damaging	1.00
R1978:Skic3	UTSW	13	76,282,934 (GRCm39)	missense	probably benign	0.00
R2040:Skic3	UTSW	13	76,328,222 (GRCm39)	missense	probably damaging	1.00
R2136:Skic3	UTSW	13	76,321,473 (GRCm39)	missense	possibly damaging	0.87
R2268:Skic3	UTSW	13	76,260,393 (GRCm39)	unclassified	probably benign
R2483:Skic3	UTSW	13	76,330,986 (GRCm39)	missense	probably damaging	1.00
R2988:Skic3	UTSW	13	76,303,808 (GRCm39)	missense	probably benign	0.11
R3701:Skic3	UTSW	13	76,261,798 (GRCm39)	missense	probably benign
R3951:Skic3	UTSW	13	76,278,338 (GRCm39)	missense	probably damaging	1.00
R4411:Skic3	UTSW	13	76,275,623 (GRCm39)	missense	possibly damaging	0.89
R4957:Skic3	UTSW	13	76,333,232 (GRCm39)	splice site	probably null
R4960:Skic3	UTSW	13	76,333,275 (GRCm39)	missense	possibly damaging	0.95
R4993:Skic3	UTSW	13	76,331,055 (GRCm39)	missense	probably damaging	0.96
R5206:Skic3	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
R5208:Skic3	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
R5302:Skic3	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
R5305:Skic3	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
R5306:Skic3	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
R5579:Skic3	UTSW	13	76,333,319 (GRCm39)	missense	probably damaging	1.00
R5618:Skic3	UTSW	13	76,321,545 (GRCm39)	missense	probably benign
R5726:Skic3	UTSW	13	76,266,466 (GRCm39)	missense	probably damaging	1.00
R5813:Skic3	UTSW	13	76,303,852 (GRCm39)	missense	probably benign	0.05
R5899:Skic3	UTSW	13	76,259,938 (GRCm39)	splice site	probably null
R6146:Skic3	UTSW	13	76,333,359 (GRCm39)	missense	probably damaging	1.00
R6224:Skic3	UTSW	13	76,266,410 (GRCm39)	missense	probably benign	0.02
R6286:Skic3	UTSW	13	76,291,359 (GRCm39)	missense	probably damaging	1.00
R6402:Skic3	UTSW	13	76,283,389 (GRCm39)	missense	probably benign	0.05
R6561:Skic3	UTSW	13	76,298,638 (GRCm39)	missense	probably damaging	1.00
R6808:Skic3	UTSW	13	76,333,298 (GRCm39)	missense	probably damaging	0.96
R7054:Skic3	UTSW	13	76,283,079 (GRCm39)	missense	probably damaging	1.00
R7261:Skic3	UTSW	13	76,261,698 (GRCm39)	missense	probably benign	0.30
R7267:Skic3	UTSW	13	76,328,196 (GRCm39)	missense	probably benign	0.15
R7348:Skic3	UTSW	13	76,331,003 (GRCm39)	missense	possibly damaging	0.82
R7384:Skic3	UTSW	13	76,298,854 (GRCm39)	missense	possibly damaging	0.53
R7404:Skic3	UTSW	13	76,296,866 (GRCm39)	nonsense	probably null
R7421:Skic3	UTSW	13	76,296,944 (GRCm39)	missense	probably benign	0.12
R7546:Skic3	UTSW	13	76,282,954 (GRCm39)	missense	probably damaging	1.00
R7771:Skic3	UTSW	13	76,283,149 (GRCm39)	missense	probably benign	0.21
R7960:Skic3	UTSW	13	76,260,318 (GRCm39)	missense	probably benign	0.03
R8125:Skic3	UTSW	13	76,278,446 (GRCm39)	critical splice donor site	probably null
R8136:Skic3	UTSW	13	76,261,222 (GRCm39)	missense	probably benign	0.00
R8680:Skic3	UTSW	13	76,303,587 (GRCm39)	missense	probably benign	0.01
R8697:Skic3	UTSW	13	76,328,274 (GRCm39)	missense	probably damaging	1.00
R8867:Skic3	UTSW	13	76,279,428 (GRCm39)	missense	probably damaging	0.99
R8872:Skic3	UTSW	13	76,333,326 (GRCm39)	missense	probably damaging	1.00
R8876:Skic3	UTSW	13	76,323,403 (GRCm39)	missense	probably benign	0.12
R8912:Skic3	UTSW	13	76,305,361 (GRCm39)	splice site	probably benign
R9174:Skic3	UTSW	13	76,295,893 (GRCm39)	missense	probably benign	0.00
R9334:Skic3	UTSW	13	76,281,076 (GRCm39)	missense	possibly damaging	0.65
R9389:Skic3	UTSW	13	76,275,158 (GRCm39)	missense	probably benign	0.02
R9422:Skic3	UTSW	13	76,278,447 (GRCm39)	splice site	probably benign
R9443:Skic3	UTSW	13	76,266,288 (GRCm39)	missense	probably benign	0.01
R9545:Skic3	UTSW	13	76,259,832 (GRCm39)	missense	probably damaging	1.00
R9596:Skic3	UTSW	13	76,330,968 (GRCm39)	missense	possibly damaging	0.64
X0067:Skic3	UTSW	13	76,281,052 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TTCTGGATTTGAATCATGGAAAGG -3'
(R):5'- GTCTATGAAAACATTCTCATCAGTCTG -3'

Sequencing Primer
(F):5'- GAGTCAGAAAATGCTCCTC -3'
(R):5'- ACAAGAGTCACATTCAAATAATC -3'

Posted On

2015-07-07